CD81-AS1[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	A-GAMMA3'E, ANO9 +388 more	Copy number gain	See cases	GPathogenic
Select item 57274	GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3	ANO9, AP2A2 +271 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	LOC130005164, LOC130005165 +332 more	Copy number gain	See cases	GPathogenic
Select item 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	ASCL2, BGLT3 +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic
Select item 154397	GRCh38/hg38 11p15.5-15.4(chr11:1132899-3213923)x1	ASCL2, BRSK2 +129 more	Copy number loss	See cases	GPathogenic
Select item 147689	GRCh38/hg38 11p15.5-15.4(chr11:1537379-3360769)x3	C11orf21, CARS1 +115 more	Copy number gain	See cases	GPathogenic
Select item 147964	GRCh38/hg38 11p15.5-15.4(chr11:1975511-3624139)x1	ASCL2, C11orf21 +83 more	Copy number loss	See cases	GUncertain significance
Select item 146876	GRCh38/hg38 11p15.5-15.4(chr11:1975511-2888695)x3	ASCL2, C11orf21 +52 more	Copy number gain	See cases	GPathogenic
Select item 155520	GRCh38/hg38 11p15.5(chr11:2106943-2565669)x3	ASCL2, C11orf21 +32 more	Copy number gain	See cases	GUncertain significance
Select item 148331	GRCh38/hg38 11p15.5(chr11:2149352-2467542)x3	ASCL2, C11orf21 +28 more	Copy number gain	See cases	GUncertain significance
Select item 1277533	NM_001297649.2(CD81):c.-148+835T>C	CD81, CD81-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 623757	NM_004356.4(CD81):c.-3G>A	CD81, CD81-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1460443	NM_004356.4(CD81):c.9G>C (p.Val3=)	CD81, CD81-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1402756	NM_004356.4(CD81):c.11A>G (p.Glu4Gly)	CD81, CD81-AS1 (E4G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3012444	NM_004356.4(CD81):c.23A>G (p.Lys8Arg)	CD81, CD81-AS1 (K8R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2106194	NM_004356.4(CD81):c.26G>A (p.Cys9Tyr)	CD81, CD81-AS1 (C9Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2186773	NM_004356.4(CD81):c.27C>T (p.Cys9=)	CD81, CD81-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1602069	NM_004356.4(CD81):c.37C>T (p.Leu13=)	CD81, CD81-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2118014	NM_004356.4(CD81):c.48C>G (p.Val16=)	CD81, CD81-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2889092	NM_004356.4(CD81):c.49T>C (p.Phe17Leu)	CD81, CD81-AS1 (F17L)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2890839	NM_004356.4(CD81):c.60C>T (p.Val20=)	CD81, CD81-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2009735	NM_004356.4(CD81):c.66+4A>G	CD81, CD81-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1561670	NM_004356.4(CD81):c.66+11C>G	CD81, CD81-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1918916	NM_004356.4(CD81):c.66+19del	CD81, CD81-AS1	Deletion (non-coding transcript variant +1 more)	not provided	GBenign

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Items: 27